Description:
VERTEBRAL ANOMALIES
|
Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Single neural tube defect in skin at thoracic region; back turned toward chest; long digits; short arm & forearm; depressed nasal bridge; bilateral club feet; 46,XY in PBL; expired at day 4 of life |
| Lee JA, Conrad JV, Rusteika M, Drissi TH, Zhang T, Liu S, Singla S, Willetts L, Semper C, Rancourt D, Chu LF, Generation of two human induced pluripotent stem cell lines from patient-derived fibroblasts with severe congenital defects of the vertebrae and neural tube Stem cell research88:103837 2025 |
| PubMed ID: 40997543 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|